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CaBP1 and CaBP2 are important for continuous hearing by preventing inactivation of calcium currents in ear cells, with CaBP2 also able to restore hearing when reintroduced.

Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.

Hair loss in certain mice is linked to changes in keratin-related genes.

An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.

The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.

Two siblings have a rare genetic condition causing curly, coarse hair.

New gene mutations linked to skin conditions were found, bacteria and chemicals may worsen acne, a dog mutation could exist in humans, virus-like elements might be involved in psoriasis, and a vitamin D3 treatment doesn't prevent chemotherapy-related hair loss.

A new mouse mutation causes skin and hair defects due to a gene change.

Nonclassic 21-hydroxylase deficiency is a common, treatable genetic disorder causing reversible symptoms like acne and hair loss.

An infant with seizures and hair loss was diagnosed with biotinidase deficiency and treated successfully with biotin.

FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.

Accurate diagnosis of APL is crucial to avoid unnecessary treatments.

A one-year-old child with a genetic condition had symptoms improved by treating zinc deficiency.

No effective treatment exists to stimulate hair growth in atrichia with papular lesions.

21-hydroxylase deficiency causes hormone imbalances leading to various symptoms, and diagnosis involves clinical and genetic tests.

A rare genetic disease causes rickets and often hair loss in young children, which can improve with specific treatments.

A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.

Vitamin D-dependent rickets Type II causes bone problems and hair loss, and doesn't improve with Vitamin D treatment.

Hair loss can be a key sign of a rare type of rickets when vitamin D treatment doesn't work and advanced tests aren't available.

A boy with GAPO syndrome had hair loss similar to male pattern baldness without hormone issues, possibly due to skin or blood vessel problems.

Dermoscopy is useful for diagnosing Atrichia with Papular Lesions in children without needing a biopsy.

Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.

Three new types of a skin blistering disease were found, caused by specific gene mutations.

Three siblings with a genetic form of rickets showed different symptoms of the disease.

A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.

A child with rickets and hair loss might have a rare type of rickets that doesn't improve much with usual vitamin D and calcium treatment.

Two siblings with a rare type of rickets and hair loss had low vitamin D levels, which is not typical for their condition.

The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.

An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.

A child with a rare type of rickets showed some improvement with high doses of vitamin D, but such conditions often respond poorly to treatment.